Publication Date
2019
Journal Title
Am J Ophthalmol Case Rep
Abstract
© 2019 The Authors Purpose: To report en-face imaging findings at the level of ellipsoid zone (EZ) in two cases of occult macular dystrophy (OMD) with retinitis pigmentosa 1-like 1 (RP1L1) p.Arg45Trp mutation. Observations: In both patients who presented with decreased vision, pupillary examination, intraocular pressure, and anterior examination were normal. Ophthalmoscopic examination showed prominent choroidal marking whereas fundus autofluorescence was unremarkable. Spectral domain optical coherence tomography (SD-OCT) showed subtle gaps between EZ and retinal pigment epithelium (RPE). The photoreceptor disruption became more evident with en-face imaging at the EZ plane. Conclusions and importance: This is a report of two patients with EZ en-face imaging that aided in the diagnosis of OMD where other structural imaging was largely unremarkable. The en-face imaging modality can also be used to monitor OMD progression.
Volume Number
15
Pages
100465
Document Type
Article
Status
Faculty
Facility
School of Medicine
Primary Department
Ophthalmology
PMID
DOI
10.1016/j.ajoc.2019.100465